Authors
Tomohiro Otaka, Momoko Kubo, Satomi Koyama
Published in
JCEM case reports. Volume 4. Issue 8. Pages luag183. Epub Jul 13, 2026.
Abstract
KCNJ11 mutations can cause congenital hyperinsulinism or diabetes mellitus. In children, seizures are typically associated with stress-induced hyperglycemia (150-200 mg/dL [8.3-11.1 mmol/L]; reference range, 73-109 mg/dL [4.1-6.1 mmol/L]). We report a 7-year-old boy with complex febrile status epilepticus who was incidentally found to have severe hypoglycemia (20 mg/dL [1.1 mmol/L]). On admission, plasma glucose was 157 mg/dL (8.7 mmol/L) after intravenous glucose administration, with an insulin level of 14.7 μU/mL (88.2 pmol/L; reference range, 2.19-9.89 μU/mL [13.1-59.3 pmol/L]) and suppressed ketones (3-hydroxybutyrate 65 μmol/L [0.065 mmol/L]; reference range, 0-74 μmol/L [0-0.074 mmol/L]). Retrospective review revealed neonatal hyperinsulinemic hypoglycemia (plasma glucose 34 mg/dL [1.9 mmol/L], insulin 5.2 μU/mL [31.2 pmol/L]). At ages 4 and 5 years, prolonged febrile seizures occurred with lower-than-expected glucose levels (103 mg/dL [5.7 mmol/L] and 127 mg/dL [7.0 mmol/L]). The mother had gestational diabetes mellitus followed by type 2 diabetes. Genetic testing identified a novel heterozygous nonsense pathogenic variant in KCNJ11 (p.Trp90Ter). A fasting study showed no hypoglycemia, and diazoxide was not initiated. KCNJ11 mutations can cause hypoglycemia beyond infancy, highlighting the need for genetic evaluation in atypical pediatric presentations.
PMID:
42438804
Bibliographic data and abstract were imported from PubMed on 13 Jul 2026.
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